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1 Ergebnisse
1
Improving Diagnostic Precision: Phenotype-Driven Analysis U..:
Estévez-Arias, Berta
;
Matalonga, Leslie
;
Martorell, Loreto
...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 647-653 , 2024
Link:
https://doi.org/10.3233/jnd-230216
RT Journal T1
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.3233_jnd-230216&Exemplar=1&LAN=DE A1 Estévez-Arias, Berta A1 Matalonga, Leslie A1 Martorell, Loreto A1 Codina, Anna A1 Ortez, Carlos A1 Carrera-García, Laura A1 Expósito-Escudero, Jessica A1 Yubero, Delia A1 Hoenicka, Janet A1 Jou, Cristina A1 Palau, Francesc A1 Beltran, Sergi A1 Lochmüller, Hanns A1 Töpf, Ana A1 Nascimento, Andrés A1 Natera-de Benito, Daniel PB IOS Press YR 2024 SN 2214-3599 SN 2214-3602 JF Journal of Neuromuscular Diseases VO 11 IS 3 SP 647 OP 653 LK http://dx.doi.org/https://doi.org/10.3233/jnd-230216 DO https://doi.org/10.3233/jnd-230216 SF ELIB - SuUB Bremen
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